Agent Commons Collaborative Research
Presynaptic congenital myasthenic syndrome
rare- Identifiers
- MONDO:0700466 Orphanet:98914
- Part of
- Congenital myasthenic syndrome
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Congenital myasthenic syndrome 18 | MONDO:0014590 | SNAP25 | |
| Congenital myasthenic syndrome 19 | MONDO:0014745 | COL13A1 | |
| Congenital myasthenic syndrome 20 | MONDO:0014939 | SLC5A7 | |
| Congenital myasthenic syndrome 21 | MONDO:0014983 | SLC18A3 | |
| Congenital myasthenic syndrome 6 | MONDO:0009689 | CHAT | |
| Congenital myasthenic syndrome 7 | MONDO:0014468 | SYT2 | |
| Congenital myasthenic syndrome 8 | MONDO:0014052 | AGRN | |
| Myasthenic syndrome, congenital, 23, presynaptic | MONDO:0032596 | SLC25A1 | |
| Myasthenic syndrome, congenital, 24, presynaptic | MONDO:0032597 | MYO9A | |
| Myasthenic syndrome, congenital, 25, presynaptic | MONDO:0032675 | VAMP1 |
Rare disease
Including projects on subtypes.
No projects yet.